FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 13482

FusionGeneSummary for FIP1L1_PDGFRA

check button Fusion gene summary
Fusion gene informationFusion gene name: FIP1L1_PDGFRA
Fusion gene ID: 13482
HgeneTgene
Gene symbol

FIP1L1

PDGFRA

Gene ID

81608

5156

Gene namefactor interacting with PAPOLA and CPSF1platelet derived growth factor receptor alpha
SynonymsFIP1|Rhe|hFip1CD140A|PDGFR-2|PDGFR2
Cytomap

4q12

4q12

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA 3'-end-processing factor FIP1FIP1 like 1FIP1-like 1 proteinFIP1L1 cleavage and polyadenylation specific factor subunitfactor interacting with PAPrearranged in hypereosinophiliaplatelet-derived growth factor receptor alphaCD140 antigen-like family member ACD140a antigenPDGF-R-alphaalpha-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 2platelet-derived growth factor receptor, alpha polype
Modification date2018052320180523
UniProtAcc

Q6UN15

P16234

Ensembl transtripts involved in fusion geneENST00000507166, ENST00000358575, 
ENST00000337488, ENST00000507922, 
ENST00000306932, ENST00000510668, 
ENST00000257290, ENST00000508170, 
Fusion gene scores* DoF score7 X 8 X 5=28012 X 13 X 4=624
# samples 1013
** MAII scorelog2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/624*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FIP1L1 [Title/Abstract] AND PDGFRA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePDGFRA

GO:0008284

positive regulation of cell proliferation

10806482

TgenePDGFRA

GO:0010544

negative regulation of platelet activation

8188664

TgenePDGFRA

GO:0018108

peptidyl-tyrosine phosphorylation

1646396|2536956|8188664

TgenePDGFRA

GO:0030335

positive regulation of cell migration

17470632

TgenePDGFRA

GO:0034614

cellular response to reactive oxygen species

24190966

TgenePDGFRA

GO:0038091

positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway

17470632

TgenePDGFRA

GO:0046777

protein autophosphorylation

1646396|2536956|8188664

TgenePDGFRA

GO:0048008

platelet-derived growth factor receptor signaling pathway

2536956|10806482

TgenePDGFRA

GO:0048146

positive regulation of fibroblast proliferation

10806482


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DB355043FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
ChiTaRS3.1AY229892FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000507166ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
intron-intronENST00000507166ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000358575ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000358575ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000337488ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000337488ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
intron-intronENST00000507922ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
intron-intronENST00000507922ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000306932ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
5CDS-intronENST00000306932ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
intron-intronENST00000510668ENST00000257290FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
intron-intronENST00000510668ENST00000508170FIP1L1chr4

54324852

-PDGFRAchr4

54327780

-
In-frameENST00000507166ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
5CDS-intronENST00000507166ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
In-frameENST00000358575ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
5CDS-intronENST00000358575ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
In-frameENST00000337488ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
5CDS-intronENST00000337488ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
In-frameENST00000507922ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
5CDS-intronENST00000507922ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
In-frameENST00000306932ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
5CDS-intronENST00000306932ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
intron-3CDSENST00000510668ENST00000257290FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+
intron-intronENST00000510668ENST00000508170FIP1L1chr4

54292132

+PDGFRAchr4

55141089

+

Top

FusionProtFeatures for FIP1L1_PDGFRA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FIP1L1

Q6UN15

PDGFRA

P16234

Tyrosine-protein kinase that acts as a cell-surfacereceptor for PDGFA, PDGFB and PDGFC and plays an essential role inthe regulation of embryonic development, cell proliferation,survival and chemotaxis. Depending on the context, promotes orinhibits cell proliferation and cell migration. Plays an importantrole in the differentiation of bone marrow-derived mesenchymalstem cells. Required for normal skeleton development and cephalicclosure during embryonic development. Required for normaldevelopment of the mucosa lining the gastrointestinal tract, andfor recruitment of mesenchymal cells and normal development ofintestinal villi. Plays a role in cell migration and chemotaxis inwound healing. Plays a role in platelet activation, secretion ofagonists from platelet granules, and in thrombin-induced plateletaggregation. Binding of its cognate ligands - homodimeric PDGFA,homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB orhomodimeric PDGFC -leads to the activation of several signalingcascades; the response depends on the nature of the bound ligandand is modulated by the formation of heterodimers between PDGFRAand PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activationof PLCG1 leads to the production of the cellular signalingmolecules diacylglycerol and inositol 1,4,5-trisphosphate,mobilization of cytosolic Ca(2+) and the activation of proteinkinase C. Phosphorylates PIK3R1, the regulatory subunit ofphosphatidylinositol 3-kinase, and thereby mediates activation ofthe AKT1 signaling pathway. Mediates activation of HRAS and of theMAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation ofSTAT family members STAT1, STAT3 and STAT5A and/or STAT5B.Receptor signaling is down-regulated by protein phosphatases thatdephosphorylate the receptor and its down-stream effectors, and byrapid internalization of the activated receptor.{ECO:0000269|PubMed:10734113, ECO:0000269|PubMed:10947961,ECO:0000269|PubMed:11297552, ECO:0000269|PubMed:12522257,ECO:0000269|PubMed:1646396, ECO:0000269|PubMed:1709159,ECO:0000269|PubMed:17141222, ECO:0000269|PubMed:20972453,ECO:0000269|PubMed:21224473, ECO:0000269|PubMed:21596750,ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:8188664,ECO:0000269|PubMed:8760137, ECO:0000269|PubMed:8943348}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000306932+915356_406265521Compositional biasNote=Pro-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000306932+915456_562265521Compositional biasNote=Arg-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000306932+915478_594265521Compositional biasNote=Glu-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000337488+1218356_406339595Compositional biasNote=Pro-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000337488+1218456_562339595Compositional biasNote=Arg-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000337488+1218478_594339595Compositional biasNote=Glu-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000358575+1118356_406324589Compositional biasNote=Pro-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000358575+1118456_562324589Compositional biasNote=Arg-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000358575+1118478_594324589Compositional biasNote=Glu-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507166+1224356_406339850Compositional biasNote=Pro-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507166+1224456_562339850Compositional biasNote=Arg-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507166+1224478_594339850Compositional biasNote=Glu-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507922+1112356_406324379Compositional biasNote=Pro-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507922+1112456_562324379Compositional biasNote=Arg-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507922+1112478_594324379Compositional biasNote=Glu-rich
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000306932+9151_356265521RegionNote=Necessary for stimulating PAPOLA activity
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000306932+915457_490265521RegionArg/Asp/Glu-rich domain
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000337488+12181_356339595RegionNote=Necessary for stimulating PAPOLA activity
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000337488+1218457_490339595RegionArg/Asp/Glu-rich domain
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000358575+11181_356324589RegionNote=Necessary for stimulating PAPOLA activity
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000358575+1118457_490324589RegionArg/Asp/Glu-rich domain
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507166+12241_356339850RegionNote=Necessary for stimulating PAPOLA activity
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507166+1224457_490339850RegionArg/Asp/Glu-rich domain
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507922+11121_356324379RegionNote=Necessary for stimulating PAPOLA activity
HgeneFIP1L1chr4:54292132chr4:55141089ENST00000507922+1112457_490324379RegionArg/Asp/Glu-rich domain


Top

FusionGeneSequence for FIP1L1_PDGFRA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for FIP1L1_PDGFRA


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for FIP1L1_PDGFRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePDGFRAP16234DB00619ImatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB06589PazopanibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB08896RegorafenibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB00102BecaplerminPlatelet-derived growth factor receptor alphabiotechapproved|investigational
TgenePDGFRAP16234DB01268SunitinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational
TgenePDGFRAP16234DB08901PonatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational

Top

RelatedDiseases for FIP1L1_PDGFRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFIP1L1C1540912Hypereosinophilic syndrome1CTD_human
TgenePDGFRAC0238198Gastrointestinal Stromal Tumors2CTD_human;HPO;ORPHANET;UNIPROT
TgenePDGFRAC0008925Cleft Palate1CTD_human
TgenePDGFRAC0015923Fetal Alcohol Syndrome1PSYGENET
TgenePDGFRAC0023893Liver Cirrhosis, Experimental1CTD_human
TgenePDGFRAC0024115Lung diseases1CTD_human
TgenePDGFRAC0025149Medulloblastoma1CTD_human
TgenePDGFRAC0035238Congenital abnormality of respiratory system1CTD_human
TgenePDGFRAC0080178Spina Bifida1CTD_human
TgenePDGFRAC0206637Chondrosarcoma, Mesenchymal1CTD_human
TgenePDGFRAC0376634Craniofacial Abnormalities1CTD_human
TgenePDGFRAC1540912Hypereosinophilic syndrome1CTD_human
TgenePDGFRAC2985290Fetal Alcohol Spectrum Disorders1PSYGENET